Table 2 Previously reported INSR mutations associated with Rabson–Mendenhall syndrome [5]
From: Rabson Mendenhall Syndrome caused by a novel missense mutation
No | INSR mutation |
|---|---|
1 | Pro193Leu Pro193Leu |
2 | Cys284Tyr Cys284Tyr |
3 | Ser323Leu Ser323Leu |
4 | Ile1116Thr Arg1131Trp |
5 | Pro970Thr Arg1131Trp |
6 | Arg1174Trp WT |
7 | Asn878Ser Ala1162Val |
8 | Cys159Phe Arg229Cys |
9 | Asn15Lys Arg1000X |
10 | Arg209His Gly359Ser |
11 | Arg86X Mu p.Asp261_Leu262insLeuHisLeuVal |
12 | IVS4-2A > G c.2480-2487del |
13 | Ile321Phe |